Rangel Nelson, Sánchez Iris Lorena, Valbuena Duván Sebastián, Rondón-Lagos Milena
Departamento de Nutrición y Bioquímica, Facultad de Ciencias, Pontificia Universidad Javeriana, Bogotá, 110231, Colombia.
School of Biological Sciences, Universidad Pedagógica Y Tecnológica de Colombia, Tunja, 150003, Colombia.
Breast Cancer (Dove Med Press). 2024 Mar 15;16:127-139. doi: 10.2147/BCTT.S445753. eCollection 2024.
The therapeutic decision for the management of breast cancer (BC) patients is based on the evaluation of prognostic factors alongside clinical and pathological parameters. Despite the use of standard biomarkers, response and resistance to therapy represent a challenge for clinicians. Among the new potential biomarkers for BC the gene have gained importance in recent years. However, while associations between gene copy number and clinicopathological characteristics have been established, its correlation with treatment response remains unclear.
This study aimed to evaluate the gene copy number and establish its associations with treatment response in estrogen receptor positive (ERα+) and ERα negative (ERα-) BC cell lines. In addition, a validation of the relationship between gene copy number and its prognostic value was performed using datasets of BC patients retrieved from the cBioPortal public database.
Our data show that in ERα+ cells, gene copy number increase (amplification), while cell proliferation decreases in response to standard drug treatments. In contrast, both gene copy number (gain) and cell proliferation increases in response to standard drug treatments in ERα- cells. The results obtained align with findings from the cBioPortal database analysis, demonstrating that ERα+/HER2- low proliferation patients, exhibiting gene amplification or gain, have a significantly higher survival probability after treatment, compared to ERα-/HER2- and HER2+ patients.
Our results suggest that in ERα+ BC cells, gene amplification could be indicative of a favorable response, while in ERα- BC cells, gene gain could be postulated as a potential predictor of treatment resistance. A broader understanding of the role of gene in treatment response, together with prospective studies in BC patients, could contribute to confirming our data, as well as optimizing existing treatments and exploring novel approaches to improve overall cancer treatment outcomes.
乳腺癌（BC）患者的治疗决策基于对预后因素以及临床和病理参数的评估。尽管使用了标准生物标志物，但治疗反应和耐药性对临床医生来说仍是一项挑战。在BC新的潜在生物标志物中，近年来 基因变得越来越重要。然而，虽然已经确定了 基因拷贝数与临床病理特征之间的关联，但其与治疗反应的相关性仍不清楚。
本研究旨在评估 基因拷贝数，并确定其与雌激素受体阳性（ERα+）和ERα阴性（ERα-）BC细胞系治疗反应的关联。此外，使用从cBioPortal公共数据库检索的BC患者数据集，对 基因拷贝数与其预后价值之间的关系进行了验证。
我们的数据表明，在ERα+细胞中， 基因拷贝数增加（扩增），而对标准药物治疗的反应是细胞增殖减少。相比之下，在ERα-细胞中， 基因拷贝数（增加）和细胞增殖均因标准药物治疗而增加。获得的结果与cBioPortal数据库分析的结果一致，表明与ERα-/HER2-和HER2+患者相比，ERα+/HER2-低增殖患者表现出 基因扩增或增加，治疗后的生存概率显著更高。
我们的结果表明，在ERα+ BC细胞中， 基因扩增可能表明反应良好，而在ERα- BC细胞中， 基因增加可被假定为治疗耐药性的潜在预测指标。对 基因在治疗反应中作用的更广泛理解，以及对BC患者的前瞻性研究，可能有助于证实我们的数据，以及优化现有治疗方法并探索新方法以改善整体癌症治疗结果。
